C0024623[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 620207	NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)	MUTYH (Q501* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 219953	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH (V493F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 418800	NM_001048174.2(MUTYH):c.1346C>A (p.Thr449Lys)	MUTYH (T477K +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 141614	NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	MUTYH (A473T +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GUncertain significance
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Carcinoma of colon +4 more	GPathogenic/Likely pathogenic
Select item 156509	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH (Q391* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial colorectal cancer +3 more	GPathogenic
Select item 406844	NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)	MUTYH (S372F +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 142860	NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr)	MUTYH (P359T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 185982	NM_001048174.2(MUTYH):c.953C>G (p.Ser318Trp)	MUTYH (S346W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 127835	NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter)	MUTYH (Q338* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 182691	NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	MUTYH (G258E +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 449417	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH (R274W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 186651	NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)	MUTYH (Q267* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 143003	NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	MUTYH (R247* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic
Select item 41761	NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys)	MUTYH (R245C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 406839	NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp)	MUTYH (G233D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 186889	NM_001048174.2(MUTYH):c.602G>A (p.Gly201Asp)	MUTYH (G229D +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GUncertain significance
Select item 184447	NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)	MUTYH (R217C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 481803	NM_001048174.2(MUTYH):c.487C>G (p.Arg163Gly)	MUTYH (R191G +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 182689	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH (R182H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 230971	NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter)	MUTYH (W156* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 186207	NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser)	MUTYH (N147S +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 185604	NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile)	MUTYH (V132I +6 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 1801675	NM_001048174.2(MUTYH):c.308G>A (p.Trp103Ter)	MUTYH (W103* +9 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2	GConflicting classifications of pathogenicity
Select item 183896	NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)	MUTYH (R109W +6 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 418771	NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr)	MUTYH (A66T +4 more)	Single nucleotide variant (missense variant +2 more)	MUTYH-related Breast Cancer +5 more	GConflicting classifications of pathogenicity
Select item 127845	NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter)	MUTYH (R19* +1 more)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 142941	NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr)	TOE1, MUTYH (S6Y)	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 90557	NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	MSH2 (R389* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 1755	NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	MSH2 (R406* +1 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 408475	NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)	MSH2 (I774V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 89178	NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)	MSH6 (Y267fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89213	NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)	MSH6 (E416fs +2 more)	Microsatellite (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89312	NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)	MSH6 (R911* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89314	NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)	MSH6 (R922* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 234622	NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)	MSH6 (Y969C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89338	NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)	MSH6 (R1035* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89352	NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)	MSH6 (R1068* +2 more)	Single nucleotide variant (nonsense)	Lynch syndrome	GPathogenic
Select item 89357	NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)	MSH6 (R1076C +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome 1	GLikely pathogenic
Select item 89364	NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)	MSH6 (F1088fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89363	NM_000179.3(MSH6):c.3261del (p.Phe1088fs)	MSH6 (F958fs +1 more)	Deletion (frameshift variant)	Lynch syndrome	GPathogenic
Select item 89404	NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)	MSH6 (R870fs +2 more)	Duplication (frameshift variant)	Lynch syndrome	GPathogenic
Select item 184998	NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)	MSH6 (L1028fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 265510	NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)	BARD1	Deletion (nonsense +1 more)	Familial cancer of breast +1 more	GPathogenic/Likely pathogenic
Select item 141702	NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)	BARD1 (R641* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GPathogenic
Select item 182036	NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)	BARD1 (R150* +1 more)	Single nucleotide variant (nonsense +2 more)	Familial cancer of breast +4 more	GPathogenic
Select item 90318	NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)	MLH1 (R226Q +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GPathogenic
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 141368	NM_000038.6(APC):c.147_150del (p.Lys49fs)	APC (K59fs +2 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 814	NM_000038.6(APC):c.643C>T (p.Gln215Ter)	APC (Q215* +3 more)	Single nucleotide variant (nonsense +1 more)	not specified +8 more	GPathogenic
Select item 419482	NM_000038.6(APC):c.813G>A (p.Met271Ile)	APC (M253I +5 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +9 more	GUncertain significance
Select item 181785	NM_000038.6(APC):c.1241G>A (p.Arg414His)	APC (R396H +10 more)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 230838	NM_000038.6(APC):c.1333C>G (p.Gln445Glu)	APC (Q427E +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 229743	NM_000038.6(APC):c.1538T>C (p.Val513Ala)	APC (V495A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 657803	NM_000038.6(APC):c.3263A>C (p.Lys1088Thr)	APC (K987T +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GUncertain significance
Select item 568688	NM_000038.6(APC):c.3661C>T (p.Pro1221Ser)	APC (P1203S +12 more)	Single nucleotide variant (missense variant)	Desmoid disease, hereditary +7 more	GConflicting classifications of pathogenicity
Select item 411562	NM_000038.6(APC):c.4332A>T (p.Gln1444His)	APC (Q1426H +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
Select item 1392042	NM_000038.6(APC):c.4430A>G (p.Gln1477Arg)	APC (Q1487R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 823	NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)	APC (E1255fs +12 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 1 +8 more	GPathogenic
Select item 236610	NM_000038.6(APC):c.4963A>G (p.Thr1655Ala)	APC (T1637A +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +8 more	GConflicting classifications of pathogenicity
Select item 216168	NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)	APC (E1645K +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 489471	NM_000038.6(APC):c.5615T>A (p.Val1872Asp)	APC (V1854D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 489485	NM_000038.6(APC):c.6727A>G (p.Thr2243Ala)	APC (T2225A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +7 more	GUncertain significance
Select item 232940	NM_000038.6(APC):c.7105C>T (p.Pro2369Ser)	APC (P2351S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +9 more	GConflicting classifications of pathogenicity
Select item 470078	NM_000038.6(APC):c.7136C>G (p.Thr2379Ser)	APC (T2361S +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GUncertain significance
Select item 186722	NM_000038.6(APC):c.7531C>T (p.Leu2511Phe)	APC (L2493F +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 216183	NM_000038.6(APC):c.8017A>G (p.Arg2673Gly)	APC (R2655G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +8 more	GConflicting classifications of pathogenicity
Select item 91382	NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)	PMS2 (R315* +5 more)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome	GPathogenic
Select item 91375	NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	PMS2 (R152fs +4 more)	Microsatellite (frameshift variant +2 more)	Lynch syndrome	GPathogenic
Select item 232390	NM_000535.7(PMS2):c.825A>G (p.Gln275=)	PMS2	Single nucleotide variant (synonymous variant +2 more)	Hereditary nonpolyposis colon cancer +6 more	GPathogenic/Likely pathogenic
Select item 234508	NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)	PMS2 (R211* +3 more)	Single nucleotide variant (nonsense +3 more)	Hereditary nonpolyposis colorectal neoplasms +5 more	GPathogenic
Select item 411028	NM_000535.7(PMS2):c.538-2A>G	PMS2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome +4 more	GPathogenic/Likely pathogenic
Select item 9234	NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)	PMS2 (R134* +2 more)	Single nucleotide variant (nonsense +2 more)	Lynch syndrome	GPathogenic
Select item 439243	NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	PMS2 (E81* +1 more)	Single nucleotide variant (nonsense +3 more)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1745351	NM_000535.7(PMS2):c.51_55del (p.Ile18fs)	PMS2 (I18fs)	Deletion (frameshift variant +3 more)	Lynch syndrome 4 +3 more	GPathogenic
Select item 371415	NM_002485.5(NBN):c.1846-1G>A	LOC126860438, NBN	Single nucleotide variant (splice acceptor variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1369995	NM_002485.5(NBN):c.1523dup (p.Ser509fs)	NBN (S427fs +1 more)	Duplication (frameshift variant)	Microcephaly, normal intelligence and immunodeficiency +1 more	GPathogenic/Likely pathogenic
Select item 492093	NM_002485.5(NBN):c.1396dup (p.Arg466fs)	NBN (R384fs +1 more)	Duplication (frameshift variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
Select item 630494	NM_002485.5(NBN):c.896+1G>A	NBN	Single nucleotide variant (splice donor variant)	Aplastic anemia +1 more	GLikely pathogenic
Select item 370213	NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	NBN (R89* +1 more)	Single nucleotide variant (nonsense)	Aplastic anemia +4 more	GPathogenic/Likely pathogenic
Select item 142203	NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	NBN (R43*)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly, normal intelligence and immunodeficiency +3 more	GConflicting classifications of pathogenicity
Select item 7819	NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)	PTEN (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	Malignant tumor of prostate +8 more	GPathogenic OOncogenic
Select item 404168	NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	PTEN (Y155C +1 more)	Single nucleotide variant (missense variant +1 more)	PTEN hamartoma tumor syndrome	GPathogenic FDA Recognized database
Select item 7813	NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	PTEN (R233* +2 more)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 13268	NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	FGFR2	Single nucleotide variant (synonymous variant +2 more)	Craniosynostosis syndrome +15 more	GPathogenic
Select item 13293	NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	FGFR2 (W290C +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis +12 more	GPathogenic
Select item 181913	NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	ATM (R248*)	Single nucleotide variant (nonsense)	Familial cancer of breast +3 more	GPathogenic/Likely pathogenic
Select item 216024	NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	ATM (R250*)	Single nucleotide variant (nonsense)	Familial cancer of breast +4 more	GPathogenic
Select item 234216	NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	ATM (E277*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 229794	NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	ATM (P292L)	Single nucleotide variant (missense variant)	Familial cancer of breast	GLikely pathogenic FDA Recognized database
Select item 127337	NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	ATM (R447*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 407450	NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	ATM (Q852*)	Single nucleotide variant (nonsense)	Ataxia-telangiectasia syndrome +3 more	GPathogenic

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